ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741813965
Gene: NPC1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000262.2:p.Val1212Met
CA401790758
NM_000271.5:c.3634G>A